A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545594



Internal ID16333003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:15360563..15423721hg38UCSC Ensembl
Innerchr1:15687059..15750217hg19UCSC Ensembl
Innerchr1:15559646..15622804hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3863159
hg1963159
hg1863159
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173772
SamplesNINDS_60
Known GenesEFHD2, FHAD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545594
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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